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Article

Congenital fibrosis of extraocular muscles type 1 with progression of ophthalmoplegia.

European journal of medical research - 17 Aug 2005

Hanisch F, Bau V, Zierz S

Abstract excerpt

BACKGROUND: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a congenital, non-progressive autosomal-dominant disorder with bilateral oculomotor nerve palsy due to mutations in the kinesin motor protein gene KIF21A. - RESULTS: We present a 60-year old patient with CFEOM1 due to the common C2860T mutation in KIF21A. At the age of 37, he complained about newly occurred diplopia, which implies the...

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PMID: 16131480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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